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1.
Artigo em Inglês | MEDLINE | ID: mdl-33151195

RESUMO

Amalgam tattoos are a serious cosmetic problem for patients. A 35-year-old woman came to a private periodontal practice complaining of black pigmentation (amalgam tattoo) above temporary crowns on the lateral and central maxillary incisors and asked that the cosmetic problem be solved before the new permanent crowns were cemented into place. A full-thickness coronoapical incision was made to raise a thick flap; another incision parallel to the surface of the alveolar mucosa made it possible to remove the pigmented connective tissue, which was sent for histologic examination. Due to the fact that the pigmentation extended into the gingival epithelium, the gingiva of the lateral and central incisors was completely removed, with a horizontal incision in the alveolar mucosa from the ends of the distal releasing incisions. Therefore, partially denuded alveolar bone was used as the recipient site for a free gingival graft (FGG). The histologic analysis revealed the presence of amalgam fragments of different sizes in both connective tissue and epithelium. At 6 months, 3 years, and 24 years postoperatively, the periodontal tissues appeared healthy, and the treated area was pink, without pigmentation or scarring, and was perfectly integrated with the adjacent tissues. The patient was very pleased with her appearance. A one-stage procedure, namely an FGG, should be considered an effective treatment of amalgam tattoo providing positive morphologic and cosmetic outcomes over a 24-year follow-up period.


Assuntos
Doenças da Gengiva , Transtornos da Pigmentação , Tatuagem , Adulto , Amálgama Dentário/efeitos adversos , Feminino , Gengiva , Doenças da Gengiva/induzido quimicamente , Doenças da Gengiva/cirurgia , Humanos , Transtornos da Pigmentação/induzido quimicamente
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(11): 1233-1235, 2020 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-33179227

RESUMO

OBJECTIVE: To detect variants of ADAR1 gene in two Chinese pedigrees affected with dyschromatosis symmetrica hereditaria (DSH). METHODS: Clinical data and peripheral blood samples of the pedigrees were collected. All exons of the ADAR1 gene were amplified by PCR and subjected to Sanger sequencing. Suspected pathogenic variants were validated among other members of the pedigrees and 100 unrelated healthy controls. RESULTS: For pedigree 1, Sanger sequencing has identified a heterozygous missense variant c.3002G>C (p.Asp968His) in exon 11 of the ADAR1 gene in the proband and his father. For pedigree 2, a novel nonsense variant c.3145C>T (p.Gln1049Ter) was identified in exon 12 of the ADAR1 gene in the proband and his son, which were previously unreported and absent among the healthy controls. CONCLUSION: The c.3002G>C (p.Asp968His) and c.3145C>T (p.Gln1049Ter)variants of the ADAR1 gene probably underlay the DSH in the two pedigrees.


Assuntos
Adenosina Desaminase/genética , Transtornos da Pigmentação/congênito , Proteínas de Ligação a RNA/genética , Humanos , Mutação , Linhagem , Transtornos da Pigmentação/genética
3.
Sci Rep ; 10(1): 16122, 2020 09 30.
Artigo em Inglês | MEDLINE | ID: mdl-32999337

RESUMO

Colouration may endorse thermoregulatory and antipredatory functions in snakes. The thermal melanism hypothesis predicts that dark-coloured individuals are ecologically favoured in cool climates. However, the loss of aposematic and cryptic colourations may imply high predation for melanistic snakes. Here, we used the monophyletic group of Eurasian vipers (subfamily Viperinae) to test whether an increase in the extent of dark area inside the characteristic zigzag dorsal pattern is associated to colder environments. We measured two colouration traits in zigzag-patterned individuals (number of dorsal marks and weighted pigmentation index) and used a phylogenetic comparative approach to explore macroevolutionary patterns of dorsal pigmentation and test whether its extent is associated to ecogeographic characteristics of lineages' ranges. Phylogenetically-naïve and phylogenetically-informed analyses yielded a significant association between the degree of pigmentation of the zigzag pattern and environmental variables such as solar radiation, elevation and latitude. The degree of pigmentation of the zigzag pattern is highlighted as an adaptive trait that matches range attributes mirroring cold environments irrespective of the phylogeny. These results constitute the first large-scale evidence supporting the thermal melanism hypothesis in snakes, opening new avenues of inquiry for the mechanisms that shape the evolution of colour phenotypes.


Assuntos
Melanose/genética , Pigmentação/genética , Viperidae/genética , Animais , Regulação da Temperatura Corporal/genética , Cor , Filogenia , Transtornos da Pigmentação , Comportamento Predatório/fisiologia
4.
Medicine (Baltimore) ; 99(44): e22816, 2020 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-33126320

RESUMO

RATIONALE: Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H mutation in TP63 is reported, and the correlation between genotype and phenotype is discussed based on the current case and previous literature. PATIENT CONCERNS: A 13-year-old Japanese boy had ectrodactyly in the right hand and left foot and syndactyly in the left and right foot, and tooth shape abnormalities. DIAGNOSES: Peripheral blood samples were obtained, and mutation analysis was performed. A heterozygous G>A transition at cDNA position 956 of the TP63 gene was found. The patient was diagnosed with ELA (EEC/LM/ADULT) syndrome based on his clinical features and mutation analysis results. INTERVENTIONS: The patient underwent surgery to correct the left foot malformation at 1 year of age and the right foot syndactyly at 11 years of age. OUTCOMES: No complications were observed after the first and second operations. He can walk comfortably after them, and no additional interventions will be planned in him. We continued to follow up with him up to the present. LESSONS: The concept of ELA syndrome, which is the original concept of combining 3 syndromes (EEC syndrome/LMS/ADULT syndrome) into a unique clinical entity, can help clinicians to better understand TP63-related syndromes and improve the differential diagnosis of these syndromes.


Assuntos
Anodontia/sangue , Mama/anormalidades , Fissura Palatina/sangue , Displasia Ectodérmica/sangue , Dedos/anormalidades , Deformidades Congênitas da Mão/sangue , Obstrução dos Ductos Lacrimais/sangue , Deformidades Congênitas dos Membros/sangue , Unhas Malformadas/sangue , Transtornos da Pigmentação/sangue , Fatores de Transcrição/análise , Proteínas Supressoras de Tumor/análise , Adolescente , Anodontia/genética , Fissura Palatina/genética , Displasia Ectodérmica/genética , Deformidades Congênitas da Mão/genética , Humanos , Japão , Obstrução dos Ductos Lacrimais/genética , Deformidades Congênitas dos Membros/genética , Masculino , Mutação/genética , Unhas Malformadas/genética , Transtornos da Pigmentação/genética , Fatores de Transcrição/sangue , Proteínas Supressoras de Tumor/sangue
6.
PLoS One ; 15(9): e0239019, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32941497

RESUMO

The melanosome is a specialized membrane-bound organelle that is involved in melanin synthesis, storage, and transportation. In contrast to melanosome biogenesis, the processes underlying melanosome degradation remain largely unknown. Autophagy is a process that promotes degradation of intracellular components' cooperative process between autophagosomes and lysosomes, and its role for process of melanosome degradation remains unclear. Here, we assessed the regulation of autophagy and its contributions to depigmentation associated with Melasolv (3,4,5-trimethoxycinnamate thymol ester). B16F1 cells-treated with Melasolv suppressed the α-MSH-stimulated increase of melanin content and resulted in the activation of autophagy. However, introduction of bafilomycin A1 strongly suppressed melanosome degradation in Melasolv-treated cells. Furthermore, inhibition of autophagy by ATG5 resulted in significant suppression of Melasolv-mediated depigmentation in α-MSH-treated cells. Taken together, our results suggest that treatment with Melasolv inhibits skin pigmentation by promoting melanosome degradation via autophagy activation.


Assuntos
Cinamatos/farmacologia , Melanossomas/efeitos dos fármacos , Melanossomas/metabolismo , Animais , Autofagossomos/metabolismo , Autofagia/efeitos dos fármacos , Linhagem Celular Tumoral , Cinamatos/metabolismo , Macrolídeos/farmacologia , Melaninas/metabolismo , Melanócitos/metabolismo , Camundongos , Pigmentação/efeitos dos fármacos , Transtornos da Pigmentação/metabolismo , Pigmentação da Pele/efeitos dos fármacos , alfa-MSH/efeitos dos fármacos , alfa-MSH/metabolismo
8.
BMC Dermatol ; 20(1): 9, 2020 09 29.
Artigo em Inglês | MEDLINE | ID: mdl-32993612

RESUMO

BACKGROUND: The impact of Malassezia yeasts on skin mycobiome and health has received considerable attention recently. Pityriasis versicolor (PV), a common dermatosis caused by Malassezia genus worldwide, is a manifestation of dysbiosis. PV can be associated with hyper- and/or hypopigmented skin lesions. This disease entity is characterized by high percentage of relapses, which demands a proper antifungal therapy that is based on unambiguous species identification and drug susceptibility testing. CASE PRESENTATION: Comprehensive analysis of PV case in man presenting simultaneously hyper- and hypopigmented skin lesions was performed. Conventional and molecular diagnostic procedures revealed Malassezia furfur and Malassezia sympodialis, respectively as etiological agents of skin lesions observed. Susceptibility tests showed significantly lowered sensitivity of M. furfur cells to fluconazole. Based on susceptibility profiles local antifungal therapy with drugs characterized by entirely different mechanism of action was included. CONCLUSIONS: Our study indicates that cases of PV represented by two types of skin lesions in one patient may be associated with distinct Malassezia species. Moreover, as observed in this case, each of the isolated etiological agents of PV may differ significantly in susceptibility to antifungals. This can significantly complicate the treatment of dermatosis, which by definition is associated with a significant percentage of relapses. In the presented case localized topical treatment was sufficient and successful while allowing maintaining the physiological mycobiome.


Assuntos
Antifúngicos/uso terapêutico , Ciclopirox/administração & dosagem , Malassezia/isolamento & purificação , Micobioma/efeitos dos fármacos , Pele/microbiologia , Terbinafina/administração & dosagem , Tinha Versicolor/tratamento farmacológico , Administração Tópica , Antifúngicos/farmacologia , Quimioterapia Combinada , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos da Pigmentação/etiologia , Tinha Versicolor/complicações
9.
Rev. ADM ; 77(4)jul.-ago. 2020. ilus
Artigo em Espanhol | LILACS | ID: biblio-1140041

RESUMO

Las pigmentaciones de la cavidad oral son comunes, éstas pueden representar diversas entidades clínicas, desde cambios fisiológicos hasta cambios malignos. Las pigmentaciones en la encía se conocen como pigmentaciones melánicas o melanosis gingival; en la encía se observan como tinciones oscuras ocasionadas por la acumulación de melanina en la zona. Éstas se consideran comunes, pueden representar variación normal en la pigmentación de melanina de la mucosa oral, hasta representar procesos malignos. En general, las personas de piel más oscura presentan frecuentemente mayor pigmentación de melanina oral que las personas de piel clara. Las variaciones en la pigmentación fisiológica oral están determinadas genéticamente a menos que estén asociadas con alguna enfermedad subyacente (AU)


Pigmentation of the oral cavity is common, it can represent diverse clinical entities, from physiological changes to malignant changes. Gum pigmentations are known as melanic pigmentations or gingival melanosis, and are observed as dark stains caused by the accumulation of melanin in the localized area. These are considered common, they can represent normal variation in melanin pigmentation of the oral mucosa, or malignant processes. In general, people with darker skin often exhibit greater pigmentation of oral melanin than people with fair skin. Variations in oral physiological pigmentation are genetically determined unless they are associated with some underlying disease (AU)


Assuntos
Humanos , Feminino , Adulto , Transtornos da Pigmentação/fisiopatologia , Melanose , Mucosa Bucal , Transtornos da Pigmentação/cirurgia , Transtornos da Pigmentação/genética , Biópsia , Diagnóstico Diferencial , Melaninas/fisiologia
10.
S D Med ; 73(8): 360-365, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32809295

RESUMO

A 71-year-old female presented to the ophthalmology clinic with bilateral brown to black pigmentary cysts in the lower palpebral conjunctiva following eight months of 100 mg twice daily oral minocycline therapy for long- standing pyoderma gangrenosum. Minocycline-induced pigmentation has been reported in skin, nails, teeth, mucosa, thyroid, bones, and sclera. To our knowledge, since 1981, only eight cases of minocycline-induced conjunctival pigmentation have been reported, all of which occurred after longer usage and higher cumulative doses of minocycline. The diagnosis could be verified by cobalt blue filter autofluorescence. Too few cases of this benign condition exist to establish management guidelines, risk stratification of minocycline dosage/length of therapy, or other contributing patient-demographic factors. In this case, minocycline discontinuation was recommended, and a two-month follow-up ophthalmologic exam revealed unchanged pigmentation.


Assuntos
Antibacterianos , Túnica Conjuntiva , Minociclina , Transtornos da Pigmentação , Idoso , Antibacterianos/efeitos adversos , Túnica Conjuntiva/efeitos dos fármacos , Feminino , Humanos , Minociclina/efeitos adversos , Pigmentação , Transtornos da Pigmentação/induzido quimicamente , Pele
17.
Actas dermo-sifiliogr. (Ed. impr.) ; 111(3): 196-204, abr. 2020. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-191522

RESUMO

Las dermatosis purpúricas pigmentadas son un grupo de enfermedades benignas y de curso crónico. Las variantes descritas representan distintas formas clínicas de una misma entidad con unas características histopatológicas comunes para todas ellas. Exponemos a continuación un resumen de las variedades más frecuentes, sus características clínicas, dermatopatológicas y de epiluminiscencia. Al tratarse de una entidad clínica poco frecuente, benigna, y no conocerse claramente los mecanismos patogénicos de la misma, no existen tratamientos estandarizados. Se revisan los tratamientos publicados hasta el momento, la mayoría de ellos basados en casos aislados o pequeñas series de casos, sin poder establecer un nivel de evidencia suficiente como para ser recomendado ninguno de ellos como tratamiento de elección


The pigmented purpuric dermatoses are a group of benign, chronic diseases. The variants described to date represent different clinical presentations of the same entity, all having similar histopathologic characteristics. We provide an overview of the most common PPDs and describe their clinical, dermatopathologic, and epiluminescence features. PPDs are both rare and benign, and this, together with an as yet poor understanding of the pathogenic mechanisms involved, means that no standardized treatments exist. We review the treatments described to date. However, because most of the descriptions are based on isolated cases or small series, there is insufficient evidence to support the use of any of these treatments as first-line therapy


Assuntos
Humanos , Dermatopatias/diagnóstico , Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/terapia , Púrpura/diagnóstico , Transtornos da Pigmentação/patologia , Púrpura/terapia , Derme/anatomia & histologia , Derme/patologia , Diagnóstico Diferencial , Fototerapia , Terapia PUVA
18.
MMW Fortschr Med ; 162(6): 32, 2020 04.
Artigo em Alemão | MEDLINE | ID: mdl-32248481
19.
Isr Med Assoc J ; 22(4): 219-223, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32286023

RESUMO

BACKGROUND: In an effort to alter eye color during World War II, devout Nazi researcher Karin Magnussen had adrenaline eye drops administered to inmates at the concentration camp Auschwitz-Birkenau. A Sinti family, with a high prevalence of heterochromia iridis, was forced to participate in this study. Members of this family, as well as other victims, were later killed and had their eyes enucleated and sent to Magnussen for examination. Magnussen articulated the findings of these events in a manuscript that has never been published. The author is the first ophthalmologist to review this manuscript. The generation who experienced the atrocities of World War II will soon be gone and awareness of what happened during this tragic chapter of world history is fading. OBJECTIVES: To describe these events to raise awareness among future generations. METHODS: A literature review and archival search was conducted. RESULTS: Magnussen's research was based on an animal study published in 1937. For Magnussen's study, adrenaline drops were administered to inmates, including a 12-year-old girl from the Sinti family. As there was a reported case of deaf-mutism within the family, Waardenburg syndrome seems to be the most plausible explanation for this family's heritable heterochromia. CONCLUSIONS: The effort to change eye color was doomed to fail from the beginning because there was a probable diagnosis of Waardenburg syndrome. Extinction of humans for ophthalmological research is an insane act beyond imagination. For the sake of these victims, and for the generations who still feel their pain, it is imperative to tell their stories.


Assuntos
Campos de Concentração/história , Epinefrina/efeitos adversos , Cor de Olho , Experimentação Humana/história , Doenças da Íris/induzido quimicamente , Transtornos da Pigmentação/induzido quimicamente , Epinefrina/administração & dosagem , Feminino , Alemanha , História do Século XX , Experimentação Humana/ética , Humanos , Masculino , Prisioneiros , Violência/história , II Guerra Mundial
20.
Anim Genet ; 51(3): 409-419, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32232994

RESUMO

Eye colour genetics have been extensively studied in humans since the rediscovery of Mendel's laws. This trait was first interpreted using simplistic genetic models but soon it was realised that it is more complex. In this study, we analysed eye colour variability in a Large White pig population (n = 897) and report the results of GWASs based on several comparisons including pigs having four main eye colour categories (three with both pigmented eyes of different brown grades: pale, 17.9%; medium, 14.8%; and dark, 54.3%; another one with both eyes completely depigmented, 3.8%) and heterochromia patterns (heterochromia iridis - depigmented iris sectors in pigmented irises, 3.2%; heterochromia iridum - one whole eye iris of depigmented phenotype and the other eye with the iris completely pigmented, 5.9%). Pigs were genotyped with the Illumina PorcineSNP60 BeadChip and GEMMA was used for the association analyses. The results indicated that SLC45A2 (on chromosome 16, SSC16), EDNRB (SSC11) and KITLG (SSC5) affect the different grades of brown pigmentation of the eyes, the bilateral eye depigmentation defect and the heterochromia iridis defect recorded in this white pig population respectively. These genes are involved in several mechanisms affecting pigmentation. Significant associations for the eye depigmented patterns were also identified for SNPs on two SSC4 regions (including two candidate genes: NOTCH2 and PREX2) and on SSC6, SSC8 and SSC14 (including COL17A1 as candidate gene). This study provided useful information to understand eye pigmentation mechanisms, further valuing the pig as animal model to study complex phenotypes in humans.


Assuntos
Cor de Olho/genética , Estudo de Associação Genômica Ampla/veterinária , Doenças da Íris/veterinária , Transtornos da Pigmentação/veterinária , Sus scrofa/fisiologia , Doenças dos Suínos/genética , Animais , Iris/fisiologia , Doenças da Íris/genética , Itália , Pigmentação , Transtornos da Pigmentação/genética , Sus scrofa/genética , Suínos
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